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By the time someone is diagnosed with Familial Hypercholesterolemia, an illness marked by extremely high levels of LDL cholesterol, they've often had it for years and may have developed heart disease. Because the early warning signs of this disease can seem mild or even be missed altogether, it's extremely important for everyone to understand the signs of this common genetic disorder, which can affect one in five hundred people. If you have any of the following warning signs, you should talk to your doctor about testing and treatment: A Family History Of Heart Disease In the past, most people who had FH weren't diagnosed and treated for it until they'd been diagnosed and treated for advanced heart disease. In many cases, individuals would have a heart attack before anyone realized how elevated their bad (LDL) cholesterol levels were. If your parents, grandparents or siblings have a history of heart problems, you and your family members should get tested for the genetic markers for Familial Hypercholesterolemia. Highly Elevated LDL Cholesterol Levels At An Early Age Not everyone with high cholesterol has FH. If you have extremely high levels, however, it can be an indication of Familial Hypercholesterolemia, particularly if your LDL levels are over 190 as an adult or over 160 as a teen. In many cases, children will have elevated LDL levels early on in life. Doctors can miss this early warning sign in children because kids aren't usually tested for cholesterol levels. The American Academy of Pediatrics now recommends that any child with a family history of heart disease should be tested at age two and again at age ten. Catching the symptoms of Familial Hypercholesterolemia early in life can lead to better treatment and prevent early heart disease or heart attacks. Cholesterol That Doesn't Respond To Traditional Treatment If you've been exercising regularly, improved your diet and have taken one or more of the most common cholesterol lowering medications but still have high cholesterol, you should be tested for FH. In many people with this disease, traditional treatments aren't enough. You may need to consult with a lipids specialist who can tailor a customized treatment plan. Physical Signs Of Familial Hypercholesterolemia FH doesn't usually manifest itself with early physical symptoms unless you know what to look for. The physical signs are relatively mild in nature and can be easily overlooked even by a physician unless he or she knows what to look for. Typically, people are aware of these signs, but don't know that they could indicate a serious disease: • Xanthelasmata: These are small, yellow patches around the eye area. Some may be slightly raised, like a birthmark or cyst. These yellow patches are a build-up of fatty lipids beneath the top layers of skin. • Xanthoma: These are areas of swelling, typically of the tendons on the back of the heel. They usually appear as a kind of puffiness that makes the ankles look mildly bloated. They can also be seen on the back of the hands. • ArcusCornealis: A white ring around the iris or pupil of the eye. This white ring starts as a thin, white arc outlining either the iris or pupil of the eye. These deposits won't affect your vision in any way. In the elderly, they are somewhat common, but if you are under age 40, it could be a sign of high Familial Hypercholesterolemia. If you have one or more the early warning signs listed above, you should talk to your doctor about being tested for Familial Hypercholesterolemia. Early detection and treatment could mean the difference between living a full life and living with heart disease. The FH Foundation was founded to support individuals with FH and their families by providing reliable information, helpful hints and additional resources on Familial Hypercholesterolemia and its treatment. To learn more, visit their website.
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